Relier Pairs Med Genetic 3Version en ligne FOREIGN par Anthony Flish 1 Leber's Hereditary Optic Neuropathy, cause blindess, mitochondrial disease 2 Y-linked 3 Autosomal Codominant Inheritance 4 Autosomal Dominant inheritance 5 X-linked Recessive 6 X-linked Dominant Pedigree 7 p2+2pq+q2 and p+q=1 8 X-Linked Dominant inheritance 9 Autosomal Recessiv Inheritance 10 X-linked Recessive Pedigree 11 Duchenne Muscular Dystrophy lacks Dystrophin which interact with actin as well as dystroglycan-sarcoglycan. stablizes sarcolemma 12 Sex Reversal Syndrome 13 Hemophilia A or B is X-Linked recessive Disorder. Which lacks? 14 Red-Green Color Blindess 15 carrier frequency loss of SRY gene, gonad dysgenesis. 2pq lack light absorbing protein "Opsin" Hardy Weinberg Equation increase intracellular Ca2+, activation depend on protease. Kinase level in blood (20x). Clumsy. Becker Muscular Dystrophy is less severe. Mutated gene for NADH Dehydrogenase. 2 alleles at locus produce 2 different phenotypes that appear in heterozygote (i.e. A,B,O blood group).. Emphysema (a1-antitrypsin) No Father to Son transmission . Fragile X syndrome FMR1 protein. (CGG)-Arginine. -Tend to skip generation -affected offspring born to unaffected parents. -equal frequency between both sex. affect both sex. appear in every generation. (CAN CAUSE NEW AUTOSOMAL DOMINANT MUTATION) lacks clotting factor VIII or IX.